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A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

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Key Points A somatic UBA2 deletion preceded the well-established leukemia initiating event ETV6-RUNX1 fusion in monozygotic twins with BCP-ALL. A shared complex rearrangement created an ETV6-RUNX1 fusion and provided evidence… Click to show full abstract

Key Points A somatic UBA2 deletion preceded the well-established leukemia initiating event ETV6-RUNX1 fusion in monozygotic twins with BCP-ALL. A shared complex rearrangement created an ETV6-RUNX1 fusion and provided evidence of a common clonal in utero origin.

Keywords: somatic uba2; etv6 runx1; variant preceded; monozygotic twins; uba2 variant

Journal Title: Blood Advances
Year Published: 2022

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